V30V (p.Val30Val) variant of CRX (Cone-rod homeobox protein)
V30V (p.Val30Val) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- rs1968093050
- gnomAD 19-47834533-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 8.69
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available